HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12720697C>T , CM000686.2:g.12720697C>T | GRCh38 |
NC_000024.9:g.14832630C>T , CM000686.1:g.14832630C>T | GRCh37 |
NC_000024.8:g.13342024C>T | NCBI36 |
NG_008311.1:g.24471C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651177.1:c.205C>T | ENSP00000498372.1:p.Pro69Ser | |
ENST00000338981.7:c.205C>T MANE Select | ENSP00000342812.3:p.Pro69Ser | |
ENST00000426564.6:n.217C>T | ||
ENST00000493168.1:n.281C>T | ||
NM_004654.3:c.205C>T | NP_004645.2:p.Pro69Ser | |
XM_011531469.1:c.205C>T | XP_011529771.1:p.Pro69Ser | |
XM_011531470.1:c.-30C>T | XP_011529772.1:n.-30C>T | |
XM_017030078.2:c.205C>T | XP_016885567.1:p.Pro69Ser | |
NM_004654.4:c.205C>T MANE Select | NP_004645.2:p.Pro69Ser |